Whole Genome Sequencing News and Research

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Deep Longevity and Human Longevity announce collaboration to deploy AI-powered aging clocks

Today, Deep Longevity Inc, a developer of deep biomarkers of human aging, and Human Longevity Inc announce a collaboration to deploy an extensive range of AI-powered aging clocks.

14 Jul 2020

Researchers create new tool to identify cancer-causing mutations lurking in 98% of the genome

Gene coding regions constitute 2% of the human genome. St. Jude Children's Research Hospital scientists have developed a computational tool to identify alterations that drive tumor formation in the remaining 98% of the genome.

6 Jul 2020

Interactive cloud-based data portal provides access to treasure trove of pediatric solid tumor data

An innovative, interactive cloud-based data portal debuted this week that lets academic researchers mine the world's largest and most comprehensive collection of scientific resources for studying pediatric solid tumors and their related biology.

26 Jun 2020

Whole genome sequencing can improve diagnosis and treatment of patients with rare diseases

A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.

24 Jun 2020

Inherited mutation increases cancer risk among people of Brazilian descent

Scientists at St. Jude Children's Research Hospital alongside global partners are studying a common TP53-R337H variant found among people of Brazilian descent.

24 Jun 2020

Improving cancer therapies by exploiting drug resistance in cancer

News-Medical talks to Professor David Thomas about his recent research identifying the mechanisms behind cancer cells developing resistance to drugs.

23 Jun 2020

Effect of human genes on severity and infectivity of SARS-CoV-2

Now, a new paper published on the preprint server medRxiv* reports the results of an analysis of the association between the genetic variants in the patients and the clinical progression of the disease. The study included 332 patients hospitalized with COVID-19 in a single-center, with widely varying laboratory and clinical features. There were 25, 12, and 17 patients with asymptomatic, mild, and critical disease.

14 Jun 2020

Study investigates combined effects of cancer therapy and inherited genetics

Scientists at St. Jude Children's Research Hospital are studying the combined effect of cancer treatments and inherited mutations in DNA-repair genes.

5 Jun 2020

DNA sequencing and analysis of drug-resistant bacteria set up in the Philippines

Antibiotic resistance surveillance in the Philippines has moved into the genomic era, enabling better tracking of dangerous bacteria. Researchers at the Centre for Genomic Pathogen Surveillance (CGPS housed at the Wellcome Sanger Institute and The Big Data Institute, University of Oxford), and the Philippine Research Institute for Tropical Medicine, set up local DNA sequencing and analysis of drug resistant bacteria in the Philippines.

5 Jun 2020

Methods to move precision medicine from evaluation into practice and policy

Value in Health, the official journal of ISPOR-;the professional society for health economics and outcomes research, announced today the publication of a series of articles focused on methods for moving from the evaluation of precision medicine into practice and policy.

26 May 2020

DNA damage and inaccurate repair mechanisms jointly cause mutational signatures

Researchers at EMBL's European Bioinformatics Institute, the University of Dundee and the Wellcome Sanger Institute analysed over 2700 genomes from C. elegans worms in order to better understand the causes of mutations.

2 May 2020

Age-related DNA modifications linked with susceptibility to eye disease

National Eye Institute researchers profiling epigenomic changes in light-sensing mouse photoreceptors have a clearer picture of how age-related eye diseases may be linked to age-related changes in the regulation of gene expression.

21 Apr 2020

NEI researchers link age-related DNA modifications to susceptibility to eye disease

Researchers profiling epigenomic changes in mouse photoreceptors suggest that age-related eye diseases may be linked to gene expression.

21 Apr 2020

Rare structural genetic variants could play a role in schizophrenia

Most research about the genetics of schizophrenia has sought to understand the role that genes play in the development and heritability of schizophrenia. Many discoveries have been made, but there have been many missing pieces.

17 Apr 2020

Researchers develop new kind of CRISPR screen technology to target RNA

CRISPR-based genetic screens have helped scientists identify genes that are key players in sickle-cell anemia, cancer immunotherapy, lung cancer metastasis, and many other diseases.

16 Mar 2020

Pediatric Infectious Disease Journal review: COVID-19 appears less severe in children

As outbreaks of COVID-19 disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continue worldwide, there's reassuring evidence that children have fewer symptoms and less severe disease.

13 Mar 2020

A joint effort to confront the challenges of rising antimicrobial resistance in Asia

The International Vaccine Institute (IVI) and the Technical University of Denmark's (DTU) National Food Institute announced today a joint effort to strengthen external quality assurance programs for diagnostic laboratories in Asia to confront the challenges of rising antimicrobial resistance (AMR) in the region.

6 Mar 2020

Whole Genome Sequencing News and Research

Deep Longevity and Human Longevity announce collaboration to deploy AI-powered aging clocks

Researchers create new tool to identify cancer-causing mutations lurking in 98% of the genome

Interactive cloud-based data portal provides access to treasure trove of pediatric solid tumor data

Whole genome sequencing can improve diagnosis and treatment of patients with rare diseases

Inherited mutation increases cancer risk among people of Brazilian descent

Improving cancer therapies by exploiting drug resistance in cancer

Effect of human genes on severity and infectivity of SARS-CoV-2

Study investigates combined effects of cancer therapy and inherited genetics

DNA sequencing and analysis of drug-resistant bacteria set up in the Philippines

Methods to move precision medicine from evaluation into practice and policy

DNA damage and inaccurate repair mechanisms jointly cause mutational signatures

Age-related DNA modifications linked with susceptibility to eye disease

NEI researchers link age-related DNA modifications to susceptibility to eye disease

Rare structural genetic variants could play a role in schizophrenia

Researchers develop new kind of CRISPR screen technology to target RNA

Pediatric Infectious Disease Journal review: COVID-19 appears less severe in children

A joint effort to confront the challenges of rising antimicrobial resistance in Asia

New method to measure mutations in father's sperm may reveal ASD risk in future children

Researchers study how structural variations in the genome can lead to cancer

Research uncovers disease-aggravating mutation in mouse model of GRACILE syndrome

Sequencing & Genomics: Elevating Science and Healthcare eBook

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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